Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Combined simulation and ex vivo assessment of free-edge length in bicuspidization repair for congenital aortic valve disease.

Objective: The study objective was to investigate the effect of free-edge length on valve performance in bicuspidization repair of congenitally diseased aortic valves.

Methods: In addition to a constructed unicuspid aortic valve disease model, 3 representative groups-free-edge length to aortic diameter ratio 1.2, 1.

A Fluid-Structure Interaction Model of the Zebrafish Aortic Valve.

The zebrafish is a valuable model organism for studying cardiac development and diseases due to its many shared aspects of genetics and anatomy with humans and ease of experimental manipulations. Computational fluid-structure interaction (FSI) simulations are an efficient and highly controllable means to study the function of cardiac valves in development and diseases. Due to their small scales, little is known about the mechanical properties of zebrafish cardiac valves, limiting existing computational studies of zebrafish valves and their interaction with blood.

High Shear Stress Reduces ERG Causing Endothelial-Mesenchymal Transition and Pulmonary Arterial Hypertension.

Background: Computational modeling indicated that pathological high shear stress (HSS; 100 dyn/cm) is generated in pulmonary arteries (PAs; 100-500 µm) in congenital heart defects causing PA hypertension (PAH) and in idiopathic PAH with occlusive vascular remodeling. Endothelial-to-mesenchymal transition (EndMT) is a feature of PAH. We hypothesize that HSS induces EndMT, contributing to the initiation and progression of PAH.

The influence of mode of remote delivery on health-related quality of life outcome measures in British Sign Language: a mixed methods pilot randomised crossover trial.

Objectives: Little is known about the efficacy of remotely delivered outcome measures (psychological/health-related assessments) in a signed language for Deaf people. The objective is to explore the equivalence of two modes of remote delivery of health-related quality of life outcome measures in British Sign Language (BSL): asynchronous online assessment versus synchronous live face-to-face online assessment in sign language.

Methods: Thirty-one participants were recruited through Deaf networks and sign language media.